Autism

Members of our team participate in inter-related autism research programs in genetics, experimental therapeutics, and cognitive neuroscience and publish more than 50 related articles per year in peer-reviewed journals.

Using state-of-the-art molecular genetics, neurobiological, and clinical approaches, we continue to make breakthroughs in multiple aspects of autism research. The interdisciplinary research platform of the Seaver Autism Center is supported by dedicated individuals from diverse backgrounds and includes biologists, physicians, neuroscientists, psychologists, research staff, and trainees in psychiatry, psychology, neuroscience, and medicine.

Advances in Research

The Seaver Autism Center has been instrumental in discovering new genes implicated in autism and is a member of the Autism Sequencing Consortium (ASC), an international group of researchers involved in high-throughput sequencing in autism. Joseph D. Buxbaum, PhD, Director of the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai, co-founded and co-directs the ASC. The aim of the ASC is to collectively exploit sequencing approaches to resolve a substantial fraction of the genetic factors involved in autism. Funded by the National Institutes of Health, the ASC plans to sequence and analyze more than 20,000 human exomes. There are already more than 3,000 exomes on Mount Sinai's Minerva, and another 17,000 samples are expected to be added in 2014. This represents one of the largest whole exome sample sets in psychiatry and a major effort in autism research.

Advances in Patient Care

Using our translational research strategy, our researchers have tested several treatments for autism, and continue to have an active experimental therapeutics program. Alex Kolevzon, MD, the Clinical Director of the Center, is leading several clinical trials for children and adults with ASD and single-gene causes of ASD such as Phelan McDermid syndrome. Seaver researchers began with the discovery that a missing or mutated copy of the SHANK3 gene in humans causes 22q13 Deletion Syndrome/Phelan-McDermid syndrome (PMS). Most people with PMS are also affected by autism, and the SHANK3 gene mutation accounts for one percent of autism cases and up to two percent of cases of intellectual disability. Seaver researchers replicated this mutation in rodent models, and they found that insulin-like Growth Factor-1 (IGF-1) reversed the social deficits caused by the mutation in mice and rats. Researchers are testing the safety and efficacy of IGF-1 in children with PMS, and in ASD more broadly.